Posts by: Jose Marques Lopes, PhD

News

Breath testing holds potential as an accurate, simple, and noninvasive diagnostic tool for Friedreich’s ataxia (FA) and other neurodegenerative diseases, a review suggests. The study, “Emergence of breath testing as ... Read more

May 10, 2018May 10, 2018

Clinical Management of Adult Siblings with FA Described in Case Report

News

The clinical management of two siblings with Friedreich’s ataxia (FA) involved multiple approaches, including physical and occupational therapy, medications, orthopedic devices, and nutritional supplements, according to a report from clinicians ... Read more

April 24, 2018April 24, 2018

FA Patients Show Gradual Worsening of Certain Auditory Responses, Study Says

News

Researchers have found that patients with Friedreich’s ataxia (FA) show progressive deterioration of auditory neural responses to ongoing acoustic stimulation. The study titled “Rapid exhaustion of auditory neural conduction ... Read more

April 17, 2018April 17, 2018

#AAN2018 – FA Patients Show Gradual Decline in Visual Acuity Over Time, Study Finds

News

Researchers found that patients with Friedreich’s ataxia (FA) show a gradual reduction in low-contrast visual acuity over time. This decline is more pronounced in those with higher numbers of ... Read more

March 27, 2018March 28, 2018

Study Describes Pitfalls of FA Genetic Tests, Possible Need for More Analysis

News

Researchers report that genetic tests for Friedreich’s ataxia (FA) are complex and may require additional screening in cases of typical clinical presentation. The study, “Pitfalls in molecular diagnosis of Friedreich ... Read more

March 20, 2018March 20, 2018

Bone Marrow Transplants Promote Nerve Cell Repair in Mice with Friedreich’s Ataxia, Study Shows

News

Bone marrow transplants led to nerve cell restoration in a mouse model of Friedreich’s ataxia (FA), a study showed. Benefits included improvements in movement, less nervous system damage, and ... Read more

February 22, 2018

More Efficient Gene Therapy Vectors Found That May Help Disorders Like FA

News

Researchers at UNC School of Medicine described crucial structural features that enable gene therapy vectors to reach the brain. The discovery is key for neurological diseases with ongoing gene therapy ... Read more

February 8, 2018

Uric Acid Levels May Be Biomarker for Friedreich’s Ataxia, Study Suggests

News

Serum uric acid (UA) levels are increased in Friedreich’s ataxia patients and may be a disease biomarker as well as a new therapeutic target, Italian researchers suggests. Their study, ... Read more

February 6, 2018

New Analytical Method Reliably Detects Frataxin, Researchers Report

News

Researchers are developing a new analytical method, using patients’ platelets, that enables rigorous quantification of frataxin, the protein lacking in patients with Friedreich’s ataxia (FA). Findings of the study ... Read more

August 31, 2017August 31, 2017

FDA Grants Jupiter’s Jotrol Orphan Drug Status as Potential Therapy for Friedreich’s Ataxia

News

The U.S. Food and Drug Administration (FDA) has granted orphan drug status to Jotrol, a potential new therapy for Friedreich’s ataxia (FA), says the medication’s developer, Jupiter Orphan Therapeutics. ... Read more

August 17, 2017

Chondrial’s CTI-1601, a Potential Therapy for FA, Granted Orphan Drug Status by FDA

News

Chondrial Therapeutics‘ CTI-1601, an investigative therapy for Friedreich’s ataxia (FA), has been granted orphan drug status by the U.S. Food and Drug Administration (FDA). “We are very pleased to receive ... Read more

April 4, 2017April 4, 2017

Turkish Scientists Find Signs of FA and SCA in Patients Diagnosed with Hereditary Cerebellar Ataxia

News

A Turkish study has classified the genetic and observable characteristics of Friedreich’s ataxia (FA) and spinocerebellar ataxia (SCA) in patients diagnosed with hereditary cerebellar ataxia. The study, “Determination of Genotypic ... Read more

Posts by: Jose Marques Lopes, PhD

Jose Marques Lopes, PhD

Breath Testing Shows Promise as Reliable, Simple Method for Diagnosing FA, Other Diseases

Clinical Management of Adult Siblings with FA Described in Case Report

FA Patients Show Gradual Worsening of Certain Auditory Responses, Study Says

#AAN2018 – FA Patients Show Gradual Decline in Visual Acuity Over Time, Study Finds

Study Describes Pitfalls of FA Genetic Tests, Possible Need for More Analysis

Bone Marrow Transplants Promote Nerve Cell Repair in Mice with Friedreich’s Ataxia, Study Shows

More Efficient Gene Therapy Vectors Found That May Help Disorders Like FA

Uric Acid Levels May Be Biomarker for Friedreich’s Ataxia, Study Suggests

New Analytical Method Reliably Detects Frataxin, Researchers Report

FDA Grants Jupiter’s Jotrol Orphan Drug Status as Potential Therapy for Friedreich’s Ataxia

Chondrial’s CTI-1601, a Potential Therapy for FA, Granted Orphan Drug Status by FDA

Turkish Scientists Find Signs of FA and SCA in Patients Diagnosed with Hereditary Cerebellar Ataxia

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